Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812847G>C , CM000664.2:g.218812847G>C | GRCh38 |
| NC_000002.11:g.219677570G>C , CM000664.1:g.219677570G>C | GRCh37 |
| NC_000002.10:g.219385814G>C | NCBI36 |
| NG_007959.1:g.36099G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.845-77G>C MANE Select | ENSP00000258415.4:n.845-77G>C | |
| ENST00000258415.8:c.845-77G>C | ENSP00000258415.4:n.845-77G>C | |
| ENST00000411688.1:c.563-77G>C | ENSP00000392671.1:n.563-77G>C | |
| ENST00000445971.1:c.*306-77G>C | ENSP00000404945.1:n.*306-77G>C | |
| ENST00000466602.1:n.890G>C | ||
| ENST00000494263.5:n.1279-77G>C | ||
| NM_000784.3:c.845-77G>C | NP_000775.1:n.845-77G>C | |
| XM_017003488.2:c.425-77G>C | XP_016858977.1:n.425-77G>C | |
| NM_000784.4:c.845-77G>C MANE Select | NP_000775.1:n.845-77G>C |